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A.Da Silva, J.Dort, Z.Orfi, X.Pan, S.Huang, I.Kho, E.Heckel, G.Muscarnera, P.Piet van Vliet, L.Sturiale, A.Messina, D.Romeo, C.D.M.van Karnebeek, X.Wen, A.Hinek, T.Molina, G.Andelfinger, B.Ellezam, Y.Yamanaka, H.J.Olivos, C.R.Morales, J.Joyal, D.J.Lefeber, D.Garozzo, N.A.Dumont, A.V.Pshezhetsky N -acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function Science Advances 9(26), (2023) DOI: Abstract: Deleterious variants in N -acetylneuraminate pyruvate lyase (NPL) cause skeletal myopathy and cardiac edema in humans and zebrafish, but its physiological role remains unknown